CA2
Chr 8ARcarbonic anhydrase 2
Carbonic anhydrase II catalyzes the reversible hydration of carbon dioxide and is essential for bone resorption by osteoclasts and fluid regulation in various tissues including the kidney and eye. Mutations cause autosomal recessive osteopetrosis with renal tubular acidosis, affecting bone density and acid-base balance. This gene is highly intolerant to loss-of-function variants (pLI nearly 1.0), indicating that complete loss of protein function is likely pathogenic.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Safety and Efficacy of Injectable Klotho Plasmid Gene Therapy in Humans
RECRUITINGNeoadjuvant Concomitant Modulated Electro-hyperthermia in HER2-negative Breast Cancer
ACTIVE NOT RECRUITINGRespiratory Muscles in End-stage Lung Disease: Pathophysiological Processes & Clinical Consequences
NOT YET RECRUITINGHLADQA1*05 Genotype and the Efficacy of Treatment With Infliximab in Chinese Population Crohn's Disease
NOT YET RECRUITINGModulation of SERCA2a of Intra-Myocytic Calcium Trafficking in Cardiomyopathy Secondary to Duchenne Muscular Dystrophy
RECRUITINGSafety and Efficacy of Klotho and Follistatin Gene Therapy
RECRUITINGDried Plums and Bone Health in Postmenopausal Women
ACTIVE NOT RECRUITINGRandomized Controlled Trial to Assess Blockade of Voltage Gated Sodium Channels During Surgery in Operable Breast Cancer
ACTIVE NOT RECRUITINGClinical, Imaging, and Endoscopic Outcomes of Children Newly Diagnosed With Crohn's Disease
RECRUITINGAssociation Analysis of Cardiovascular and Nervous System Diseases and Intestinal Microbiome Based on Multi-omics Big Data and Related Applications
RECRUITINGInvestigation of the Correlation Between Polyamine Levels and Their Key Enzymatic Activities in Association With Inflammatory Bowel Disease Progression
RECRUITINGCombining Nutritional Therapy and Anti-TNFα Treatment in Pediatric Patients With Crohn's Disease
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools